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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Cys184_Arg185delinsPhe;Leu187_Tyr188del;Gln191_Asp193delinsThrCys;Ser195_Ser198delinsLysGlyThrVal;Phe200_Leu205delinsProAlaArgProSer;Gly207_His211del;Ser213_Trp214delinsThrAla]
CA2573050575
ENST00000558518.6:c.551_553delinsTT